Canonical Allele Identifier: CA055227
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 919776
ClinVar RCV Id: RCV001178141 RCV001875879 RCV004006446
dbSNP Id: rs750720912
ExAC: 15:48741088 G / A
gnomAD v2: 15-48741088-G-A
gnomAD v4: 15-48448891-G-A
COSMIC: COSM3887080
MyVariant Identifiers: chr15:g.48741088G>A (hg19) chr15:g.48448891G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48448891G>A , CM000677.2:g.48448891G>A GRCh38
NC_000015.9:g.48741088G>A , CM000677.1:g.48741088G>A GRCh37
NC_000015.8:g.46528380G>A NCBI36
NG_008805.2:g.201898C>T , LRG_778:g.201898C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.5548C>T ENSP00000453958.2:p.Arg1850Cys
ENST00000674301.2:c.5548C>T ENSP00000501333.2:p.Arg1850Cys
ENST00000684448.1:n.4222C>T
ENST00000316623.10:c.5548C>T MANE Select ENSP00000325527.5:p.Arg1850Cys
ENST00000674301.1:c.547C>T ENSP00000501333.1:p.Arg183Cys
ENST00000316623.9:c.5548C>T ENSP00000325527.5:p.Arg1850Cys
ENST00000537463.6:c.*1311C>T ENSP00000440294.2:n.*1311C>T
ENST00000559133.5:c.855C>T
NM_000138.4:c.5548C>T , LRG_778t1:c.5548C>T NP_000129.3:p.Arg1850Cys
NM_000138.5:c.5548C>T MANE Select NP_000129.3:p.Arg1850Cys
Search 100 bp 5'
Search 100 bp 3'